EP 3169806 B1 20190501 - SYSTEMS AND METHODS FOR DETECTING STRUCTURAL VARIANTS
Title (en)
SYSTEMS AND METHODS FOR DETECTING STRUCTURAL VARIANTS
Title (de)
SYSTEME UND VERFAHREN ZUR ERKENNUNG STRUKTURELLER VARIANTEN
Title (fr)
SYSTÈMES ET PROCÉDÉS DE DÉTECTION DE VARIANTS STRUCTURAUX
Publication
Application
Priority
- US 201462026300 P 20140718
- US 2015040951 W 20150717
Abstract (en)
[origin: US2016019340A1] Systems and method for identifying gene fusions can obtain sequencing information for a plurality of amplicons from a nucleic acid sample. The sequencing information can include a plurality of reads that are initially partially mapped to a reference sequence. Fragments may be generated by splitting the partially mapped reads into mapped and unmapped fragments, and the fragments may be remapped to the reference sequence. Gene fusions can be identified based on reads where the first fragment maps to a first gene and the second fragment maps to a second gene.
IPC 8 full level
C12Q 1/68 (2018.01); G16B 30/10 (2019.01)
CPC (source: CN EP US)
C12Q 1/6869 (2013.01 - CN EP US); G16B 20/20 (2019.01 - US); G16B 30/00 (2019.01 - CN EP US); G16B 30/10 (2019.01 - CN EP US); C12Q 2600/156 (2013.01 - US)
Designated contracting state (EPC)
AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LI LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR
DOCDB simple family (publication)
US 2016019340 A1 20160121; CN 107075571 A 20170818; CN 107075571 B 20220104; EP 3169806 A1 20170524; EP 3169806 B1 20190501; US 2019385698 A1 20191219; WO 2016011378 A1 20160121
DOCDB simple family (application)
US 201514802595 A 20150717; CN 201580036958 A 20150717; EP 15747666 A 20150717; US 2015040951 W 20150717; US 201916445477 A 20190619